HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716723_14716725del , CM000667.2:g.14716723_14716725del | GRCh38 |
NC_000005.9:g.14716832_14716834del , CM000667.1:g.14716832_14716834del | GRCh37 |
NC_000005.8:g.14769832_14769834del | NCBI36 |
NG_008273.1:g.160056_160058del | |
NG_008273.2:g.160063_160065del | |
NG_051625.1:g.60930_60932del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000284268.8:c.1124_1126del MANE Select | ENSP00000284268.6:p.Ser375del | |
ENST00000284268.6:c.1124_1126del | ENSP00000284268.6:p.Ser375del | |
ENST00000502585.1:n.366_368del | ||
NM_054027.4:c.1124_1126del | NP_473368.1:p.Ser375del | |
NM_054027.5:c.1124_1126del | NP_473368.1:p.Ser375del | |
XM_017009644.2:c.1040_1042del | XP_016865133.1:p.Ser347del | |
NM_054027.6:c.1124_1126del MANE Select | NP_473368.1:p.Ser375del |